Complexity in unclassified auto-inflammatory disease: a case report illustrating the potential for disease arising from the allelic burden of multiple variants

• Main Authors: Lori B. Tucker (Author), Lovro Lamot (Author), Iwona Niemietz (Author), Brian K. Chung (Author), David A. Cabral (Author), Kristin Houghton (Author), Ross E. Petty (Author), Kimberly A. Morishita (Author), Gillian I. Rice (Author), Stuart E. Turvey (Author), William T. Gibson (Author), Kelly L. Brown (Author)
• Format: Book
• Published: BMC, 2019-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Despite recent advances in the diagnosis and understanding of many autoinflammatory diseases, there are still a great number of patients with phenotypes that do not fit any clinically- and/or genetically-defined disorders. Case presentation We describe a fourteen-year-old boy who...